List of works - Rita D Brandão - Paulina

List of works by Rita D Brandão

A guide for functional analysis of BRCA1 variants of uncertain significance

scientific article

BRCA1 c.4987-3C>G is a pathogenic mutation.

scientific article published on 24 November 2011

Characterisation of unclassified variants in the BRCA1/2 genes with a putative effect on splicing

scientific article published on 03 June 2011

Detection of exon skipping events in BRCA1 RNA using MLPA kit P002 ⬇️

scientific article published on February 17, 2012

Screening for a BRCA2 rearrangement in high-risk breast/ovarian cancer families: evidence for a founder effect and analysis of the associated phenotypes.

scientific article published in May 2007

Targeted RNA-seq successfully identifies normal and pathogenic splicing events in breast/ovarian cancer susceptibility and Lynch syndrome genes

article

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